Zobrazeno 1 - 10 of 1 367 pro vyhledávání: '"S. Honjo"'
1
Akademický článek
Enzyme replacement therapy interruption in patients with Mucopolysaccharidoses: Recommendations for distinct scenarios in Latin America
Autor: Martha L. Solano, Alejandro Fainboim, Juan Politei, Gloria L. Porras-Hurtado, Ana Maria Martins, Carolina F. Moura Souza, Felipe Mendez Koch, Hernan Amartino, Jose Maria Satizábal, Dafne D.G. Horovitz, Paula F.V. Medeiros, Rachel S. Honjo, Charles M. Lourenço
Publikováno v: Molecular Genetics and Metabolism Reports, Vol 23, Iss , Pp - (2020)
Background: Mucopolysaccharidoses (MPS) are a group of lysosomal storage disorders, leading to the progressive accumulation of glycosaminoglycans (GAGs) and the subsequent compromising of tissues and organ malfunction. Although incurable, most types
Externí odkaz: https://doaj.org/article/39510fa3b7144e4abecda9ad2130fbf7
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2
Akademický článek
A Multicentric Brazilian Investigative Study of Copy Number Variations in Patients with Congenital Anomalies and Intellectual Disability
Autor: J. R. M. Ceroni, R. L. Dutra, R. S. Honjo, J. C. Llerena, A. X. Acosta, P. F. V. Medeiros, M. F. Galera, É. A. Zanardo, F. B. Piazzon, A. T. Dias, G. M. Novo-Filho, M. M. Montenegro, F. A. R. Madia, D. R. Bertola, J. B. de Melo, L. D. Kulikowski, C. A. Kim
Publikováno v: Scientific Reports, Vol 8, Iss 1, Pp 1-8 (2018)
Abstract Genomic imbalances are the most common cause of congenital anomalies (CA) and intellectual disability (ID). The aims of this study were to identify copy number variations (CNVs) in 416 patients with CA and ID from 5 different genetics center
Externí odkaz: https://doaj.org/article/5ba3d08972bd4534a02dc2cb4cb992df
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4
Akademický článek
Large deletion in PIGL: a common mutational mechanism in CHIME syndrome?
Autor: José RM Ceroni, Guilherme L Yamamoto, Rachel S Honjo, Chong A Kim, Maria R Passos-Bueno, Débora R Bertola
Publikováno v: Genetics and Molecular Biology, Iss 0 (2018)
Abstract CHIME syndrome is an extremely rare autosomal recessive multisystemic disorder caused by mutations in PIGL. PIGL is an endoplasmic reticulum localized enzyme that catalyzes the second step of glycosylphosphatidylinositol (GPI) biosynthesis,
Externí odkaz: https://doaj.org/article/10f7aede446d4de8be044f74700c8d99
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6
Akademický článek
Nephrogenic diabetes insipidus (NDI): clinical, laboratory and genetic characterization of five Brazilian patients
Autor: Maria Helena Vaisbich, Juliana Carneiro, Wolfanga Bóson, Bruna Resende, Luiz De Marco, Rachel S Honjo, Chong Ae Kim, Vera H Koch
Publikováno v: Clinics, Vol 64, Iss 5, Pp 409-414 (2009)
INTRODUCTION: Nephrogenic diabetes insipidus is characterized by a lack of response in the distal nephron to the antidiuretic hormone arginine vasopressin. Manifestations include polyuria, polydipsia, hyposthenuria, recurrent episodes of dehydration
Externí odkaz: https://doaj.org/article/57f8a6f63e8f4fefbf057a64161e8a95
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9
Cri du Chat syndrome: Characteristics of 73 Brazilian patients
Autor: Larissa Salustiano Evangelista Pimenta, Chong Ae Kim, Claudia Berlim de Mello, R. S. Honjo, E. C. Nuñes-Vaca, R. B. F. Khoury, D. M. Befi-Lopes, L. M. Benedetto
Publikováno v: Journal of Intellectual Disability Research. 62:467-473
BACKGROUND Cri du Chat syndrome (CdCS) is a genetic syndrome caused by deletions in the short arm of chromosome 5. Although the main clinical features of CdCS are well known, the neurocognitive and behavioural characteristics of the phenotype are rar
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::202f4dfddc777e622dbd7e04a345e966
https://doi.org/10.1111/jir.12476
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10
Akademický článek
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Plný text Recenzováno Digitální knihovna AV ČR
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